PanelApp (stage)
  1. Genes and Genomic Entities
  2. TBK1

TBK1

TANK binding kinase 1
OMIM: 604834, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green TBK1 in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.24

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, MIM# 616439

    Green TBK1 in Motor Neurone Disease


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.24

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Amyotrophic lateral sclerosis 4 (MIM#616439
    • MONDO:0011223)

    Green TBK1 in Incidentalome


    Version 0.301

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (MIM#616439), AD

    Green TBK1 in Lysosomal Storage Disorder


    Level 2: Metabolic conditions
    Version 1.11

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • frontotemporal dementia with motor neuron disease MONDO:0017161
    • Disorders of autophagy

    Green TBK1 in Defects of innate immunity


    Level 2: Immunological disorders
    Version 0.134

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  review Unknown
    Sources
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green TBK1 in Susceptibility to Viral Infections


    Level 2: Immunological disorders
    Version 0.117

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hereditary predisposition to infections, MONDO:0015979, TBK1-related

    Green TBK1 in Systemic Autoinflammatory Disease_Periodic Fever


    Level 2: Immunological disorders
    Version 1.47

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Immunodeficiency, MONDO:0021094, TBK1-related, AR
    • Autoinflammation